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UniProtKB - Q3SXY8 (AR13B_HUMAN)

Protein

ADP-ribosylation factor-like protein 13B

Gene

ARL13B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidences are required to confirm these data.1 Publication

Miscellaneous

Used as a ciliary marker because of its specific localization to microtubule doublets of the ciliary axoneme.

Caution

Was initially thought to form a homodimer (PubMed:18554500). However, 3D structure of C.reinhardtii ortholog showed that it is probably not the case.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi28 – 35GTPBy similarity8
Nucleotide bindingi71 – 75GTPBy similarity5
Nucleotide bindingi130 – 133GTPBy similarity4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5624958 ARL13B-mediated ciliary trafficking of INPP5E

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ADP-ribosylation factor-like protein 13B
Alternative name(s):
ADP-ribosylation factor-like protein 2-like 1
Short name:
ARL2-like protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ARL13B
Synonyms:ARL2L1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000169379.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:25419 ARL13B

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608922 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q3SXY8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Joubert syndrome 8 (JBTS8)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
See also OMIM:612291
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05437179R → Q in JBTS8; reduces binding to GTP. 1 PublicationCorresponds to variant dbSNP:rs121912606EnsemblClinVar.1
Natural variantiVAR_07749686Y → C in JBTS8; the patient also manifests obesity as a feature; decreased localization to cilium. 1 PublicationCorresponds to variant dbSNP:rs863225430EnsemblClinVar.1
Natural variantiVAR_054372200R → C in JBTS8. 1 PublicationCorresponds to variant dbSNP:rs121912608EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi35T → N: Does not affect localization to cilia. 1 Publication1
Mutagenesisi130N → I: Does not affect localization to cilia. 1 Publication1
Mutagenesisi231K → R: No effect. Abolishes sumoylation; when associated with R-270; R-275; R-276; R-279 and R-329. 1 Publication1
Mutagenesisi270K → R: No effect. Abolishes sumoylation; when associated with R-231; R-275; R-276; R-279 and R-329. 1 Publication1
Mutagenesisi275K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-276; R-279 and R-329. 1 Publication1
Mutagenesisi276K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-279 and R-329. 1 Publication1
Mutagenesisi279K → R: No effect. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-276 and R-329. 1 Publication1
Mutagenesisi329K → R: Abolishes sumoylation. Abolishes sumoylation; when associated with R-231; R-270; R-275; R-276 and R-279. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		200894

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ARL13B

MalaCards human disease database

More...MalaCardsi		ARL13B
MIMi612291 phenotype

Open Targets

More...OpenTargetsi		ENSG00000169379

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		475 Joubert syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134975272

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ARL13B

Domain mapping of disease mutations (DMDM)

More...DMDMi		115503786

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002511371 – 428ADP-ribosylation factor-like protein 13BAdd BLAST428

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi8S-palmitoyl cysteineBy similarity1
Lipidationi9S-palmitoyl cysteineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki329Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Sumoylation is required for PKD2 entry into cilium.1 Publication

Keywords - PTMi

Isopeptide bond, Lipoprotein, Palmitate, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q3SXY8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q3SXY8

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q3SXY8

PeptideAtlas

More...PeptideAtlasi		Q3SXY8

PRoteomics IDEntifications database

More...PRIDEi		Q3SXY8

ProteomicsDB human proteome resource

More...ProteomicsDBi		61823
61824 [Q3SXY8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q3SXY8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q3SXY8

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q3SXY8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the developing brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000169379 Expressed in 186 organ(s), highest expression level in secondary oocyte

CleanEx database of gene expression profiles

More...CleanExi		HS_ARL13B

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q3SXY8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q3SXY8 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA048926

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (By similarity). Interacts with PIFO. Interacts with IFT complex B components IFT46 and IFT74.By similarity2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		128353, 27 interactors

Protein interaction database and analysis system

More...IntActi		Q3SXY8, 122 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000377769

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q3SXY8

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q3SXY8

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili192 – 245Sequence analysisAdd BLAST54

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi369 – 419Pro-richAdd BLAST51

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the small GTPase superfamily. Arf family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0074 Eukaryota
KOG0076 Eukaryota
ENOG410XRG9 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156365

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000034031

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG060221

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q3SXY8

KEGG Orthology (KO)

More...KOi		K07962

Identification of Orthologs from Complete Genome Data

More...OMAi		KKGLFWL

Database of Orthologous Groups

More...OrthoDBi		EOG091G0BQV

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q3SXY8

TreeFam database of animal gene trees

More...TreeFami		TF105476

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR006689 Small_GTPase_ARF/SAR

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00025 Arf, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00328 SAR1GTPBP

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52540 SSF52540, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00231 small_GTP, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51417 ARF, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q3SXY8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFSLMASCCG WFKRWREPVR KVTLLMVGLD NAGKTATAKG IQGEYPEDVA 
        60         70         80         90        100
PTVGFSKINL RQGKFEVTIF DLGGGIRIRG IWKNYYAESY GVIFVVDSSD 
       110        120        130        140        150
EERMEETKEA MSEMLRHPRI SGKPILVLAN KQDKEGALGE ADVIECLSLE 
       160        170        180        190        200
KLVNEHKCLC QIEPCSAISG YGKKIDKSIK KGLYWLLHVI ARDFDALNER 
       210        220        230        240        250
IQKETTEQRA LEEQEKQERA ERVRKLREER KQNEQEQAEL DGTSGLAELD 
       260        270        280        290        300
PEPTNPFQPI ASVIIENEGK LEREKKNQKM EKDSDGCHLK HKMEHEQIET 
       310        320        330        340        350
QGQVNHNGQK NNEFGLVENY KEALTQQLKN EDETDRPSLE SANGKKKTKK 
       360        370        380        390        400
LRMKRNHRVE PLNIDDCAPE SPTPPPPPPP VGWGTPKVTR LPKLEPLGET 
       410        420 
HHNDFYRKPL PPLAVPQRPN SDAHDVIS
Length:428
Mass (Da):48,643
Last modified:October 11, 2005 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i002B38A38D1F7BDD
GO
Isoform 2 (identifier: Q3SXY8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     21-127: Missing.

Note: No experimental confirmation available.
Show »
Length:321
Mass (Da):36,795
Checksum:iD4D82D271E9E7F1E
GO
Isoform 3 (identifier: Q3SXY8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-103: Missing.

Note: No experimental confirmation available.
Show »
Length:325
Mass (Da):37,087
Checksum:i21F4DA7BFC23125C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W837F8W837_HUMAN
ADP-ribosylation factor-like protei...
ARL13B
89Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAY0F8WAY0_HUMAN
ADP-ribosylation factor-like protei...
ARL13B
56Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti275K → KK in CAD28544 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05437179R → Q in JBTS8; reduces binding to GTP. 1 PublicationCorresponds to variant dbSNP:rs121912606EnsemblClinVar.1
Natural variantiVAR_07749686Y → C in JBTS8; the patient also manifests obesity as a feature; decreased localization to cilium. 1 PublicationCorresponds to variant dbSNP:rs863225430EnsemblClinVar.1
Natural variantiVAR_054372200R → C in JBTS8. 1 PublicationCorresponds to variant dbSNP:rs121912608EnsemblClinVar.1
Natural variantiVAR_048319348T → S. Corresponds to variant dbSNP:rs33944211EnsemblClinVar.1
Natural variantiVAR_069190390R → L in a nephronophthisis (NPHP) patient. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0454211 – 103Missing in isoform 3. 1 PublicationAdd BLAST103
Alternative sequenceiVSP_02073321 – 127Missing in isoform 2. 1 PublicationAdd BLAST107

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AL713789 mRNA Translation: CAD28544.2
AC117474 Genomic DNA No translation available.
AC130896 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79897.1
CH471052 Genomic DNA Translation: EAW79901.1
CH471052 Genomic DNA Translation: EAW79898.1
BC094725 mRNA Translation: AAH94725.1
BC104035 mRNA Translation: AAI04036.1
BC104036 mRNA Translation: AAI04037.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2924.1 [Q3SXY8-2]
CCDS2925.1 [Q3SXY8-1]
CCDS54615.1 [Q3SXY8-3]

NCBI Reference Sequences

More...RefSeqi		NP_001167621.1, NM_001174150.1 [Q3SXY8-1]
NP_001167622.1, NM_001174151.1 [Q3SXY8-3]
NP_659433.2, NM_144996.3 [Q3SXY8-2]
NP_878899.1, NM_182896.2 [Q3SXY8-1]
XP_016861342.1, XM_017005853.1 [Q3SXY8-3]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.533086

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000303097; ENSP00000306225; ENSG00000169379 [Q3SXY8-2]
ENST00000394222; ENSP00000377769; ENSG00000169379 [Q3SXY8-1]
ENST00000471138; ENSP00000420780; ENSG00000169379 [Q3SXY8-1]
ENST00000535334; ENSP00000445145; ENSG00000169379 [Q3SXY8-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		200894

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:200894

UCSC genome browser

More...UCSCi		uc003drc.4 human [Q3SXY8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL713789 mRNA Translation: CAD28544.2
AC117474 Genomic DNA No translation available.
AC130896 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79897.1
CH471052 Genomic DNA Translation: EAW79901.1
CH471052 Genomic DNA Translation: EAW79898.1
BC094725 mRNA Translation: AAH94725.1
BC104035 mRNA Translation: AAI04036.1
BC104036 mRNA Translation: AAI04037.1
CCDSiCCDS2924.1 [Q3SXY8-2]
CCDS2925.1 [Q3SXY8-1]
CCDS54615.1 [Q3SXY8-3]
RefSeqiNP_001167621.1, NM_001174150.1 [Q3SXY8-1]
NP_001167622.1, NM_001174151.1 [Q3SXY8-3]
NP_659433.2, NM_144996.3 [Q3SXY8-2]
NP_878899.1, NM_182896.2 [Q3SXY8-1]
XP_016861342.1, XM_017005853.1 [Q3SXY8-3]
UniGeneiHs.533086

3D structure databases

ProteinModelPortaliQ3SXY8
SMRiQ3SXY8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128353, 27 interactors
IntActiQ3SXY8, 122 interactors
STRINGi9606.ENSP00000377769

PTM databases

iPTMnetiQ3SXY8
PhosphoSitePlusiQ3SXY8
SwissPalmiQ3SXY8

Polymorphism and mutation databases

BioMutaiARL13B
DMDMi115503786

Proteomic databases

EPDiQ3SXY8
MaxQBiQ3SXY8
PaxDbiQ3SXY8
PeptideAtlasiQ3SXY8
PRIDEiQ3SXY8
ProteomicsDBi61823
61824 [Q3SXY8-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		200894
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303097; ENSP00000306225; ENSG00000169379 [Q3SXY8-2]
ENST00000394222; ENSP00000377769; ENSG00000169379 [Q3SXY8-1]
ENST00000471138; ENSP00000420780; ENSG00000169379 [Q3SXY8-1]
ENST00000535334; ENSP00000445145; ENSG00000169379 [Q3SXY8-3]
GeneIDi200894
KEGGihsa:200894
UCSCiuc003drc.4 human [Q3SXY8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		200894
DisGeNETi200894
EuPathDBiHostDB:ENSG00000169379.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		ARL13B
GeneReviewsiARL13B
HGNCiHGNC:25419 ARL13B
HPAiHPA048926
MalaCardsiARL13B
MIMi608922 gene
612291 phenotype
neXtProtiNX_Q3SXY8
OpenTargetsiENSG00000169379
Orphaneti475 Joubert syndrome
PharmGKBiPA134975272

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0074 Eukaryota
KOG0076 Eukaryota
ENOG410XRG9 LUCA
GeneTreeiENSGT00940000156365
HOGENOMiHOG000034031
HOVERGENiHBG060221
InParanoidiQ3SXY8
KOiK07962
OMAiKKGLFWL
OrthoDBiEOG091G0BQV
PhylomeDBiQ3SXY8
TreeFamiTF105476

Enzyme and pathway databases

ReactomeiR-HSA-5624958 ARL13B-mediated ciliary trafficking of INPP5E

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ARL13B human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ARL13B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		200894

Protein Ontology

More...PROi		PR:Q3SXY8

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000169379 Expressed in 186 organ(s), highest expression level in secondary oocyte
CleanExiHS_ARL13B
ExpressionAtlasiQ3SXY8 baseline and differential
GenevisibleiQ3SXY8 HS

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR006689 Small_GTPase_ARF/SAR
PfamiView protein in Pfam
PF00025 Arf, 1 hit
PRINTSiPR00328 SAR1GTPBP
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51417 ARF, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAR13B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q3SXY8
Secondary accession number(s): D3DN29
, G3V1S8, Q504W8, Q8TCL5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 11, 2005
Last modified: December 5, 2018
This is version 120 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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